248 related articles for article (PubMed ID: 26757981)
1. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D; Reijnders MR; Fenckova M; Bijlsma EK; Bernier R; van Bon BW; Smeets E; Vulto-van Silfhout AT; Bosch D; Eichler EE; Mefford HC; Carvill GL; Bongers EM; Schuurs-Hoeijmakers JH; Ruivenkamp CA; Santen GW; van den Maagdenberg AM; Peeters-Scholte CM; Kuenen S; Verstreken P; Pfundt R; Yntema HG; de Vries PF; Veltman JA; Hoischen A; Gilissen C; de Vries BB; Schenck A; Kleefstra T; Vissers LE
Eur J Hum Genet; 2016 Aug; 24(8):1145-53. PubMed ID: 26757981
[TBL] [Abstract][Full Text] [Related]
2. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Willemsen MH; Nijhof B; Fenckova M; Nillesen WM; Bongers EM; Castells-Nobau A; Asztalos L; Viragh E; van Bon BW; Tezel E; Veltman JA; Brunner HG; de Vries BB; de Ligt J; Yntema HG; van Bokhoven H; Isidor B; Le Caignec C; Lorino E; Asztalos Z; Koolen DA; Vissers LE; Schenck A; Kleefstra T
J Med Genet; 2013 Aug; 50(8):507-14. PubMed ID: 23644463
[TBL] [Abstract][Full Text] [Related]
3. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Abdelhedi F; El Khattabi L; Essid N; Viot G; Letessier D; Lebbar A; Dupont JM
Am J Med Genet A; 2016 Jul; 170(7):1912-7. PubMed ID: 27119754
[TBL] [Abstract][Full Text] [Related]
4. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
[TBL] [Abstract][Full Text] [Related]
5. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
Quental R; Gonçalves D; Rodrigues E; Serrano Gonçalves E; Oliveira J; Parente Freixo J; Leão M
Am J Med Genet A; 2022 Apr; 188(4):1311-1316. PubMed ID: 34997803
[TBL] [Abstract][Full Text] [Related]
6. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM
PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
8. Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.
Fenckova M; Blok LER; Asztalos L; Goodman DP; Cizek P; Singgih EL; Glennon JC; IntHout J; Zweier C; Eichler EE; von Reyn CR; Bernier RA; Asztalos Z; Schenck A
Biol Psychiatry; 2019 Aug; 86(4):294-305. PubMed ID: 31272685
[TBL] [Abstract][Full Text] [Related]
9. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF; Willemsen MH; Fenckova M; Penn O; Hoischen A; Xiong B; Wang T; Hoekzema K; Vives L; Vogel I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Klein Wassink-Ruiter JS; Stumpel C; Stevens SJC; Vles HS; Marcelis CM; van Bokhoven H; Cantagrel V; Colleaux L; Nicouleau M; Lyonnet S; Bernier RA; Gerdts J; Coe BP; Romano C; Alberti A; Grillo L; Scuderi C; Nordenskjöld M; Kvarnung M; Guo H; Xia K; Piton A; Gerard B; Genevieve D; Delobel B; Lehalle D; Perrin L; Prieur F; Thevenon J; Gecz J; Shaw M; Pfundt R; Keren B; Jacquette A; Schenck A; Eichler EE; Kleefstra T
Am J Hum Genet; 2016 Mar; 98(3):541-552. PubMed ID: 26942287
[TBL] [Abstract][Full Text] [Related]
10. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E; Bellini M; Aspromonte MC; Polli R; Mercante A; Ciaccio C; Granocchio E; Bettella E; Donati I; Cainelli E; Boni S; Sartori S; Pantaleoni C; Boniver C; Murgia A
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32214004
[TBL] [Abstract][Full Text] [Related]
11. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
Toledo-Gotor C; García-Muro C; García-Oguiza A; Poch-Olivé ML; Ruiz-Del Prado MY; Domínguez-Garrido E
Mol Genet Genomic Med; 2022 May; 10(5):e1910. PubMed ID: 35266333
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Morales JA; Valenzuela I; Cuscó I; Cogné B; Isidor B; Matalon DR; Gomez-Ospina N
Am J Med Genet A; 2022 May; 188(5):1396-1406. PubMed ID: 35018708
[TBL] [Abstract][Full Text] [Related]
14. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H; Zhang Q; Dai R; Yu B; Hoekzema K; Tan J; Tan S; Jia X; Chung WK; Hernan R; Alkuraya FS; Alsulaiman A; Al-Muhaizea MA; Lesca G; Pons L; Labalme A; Laux L; Bryant E; Brown NJ; Savva E; Ayres S; Eratne D; Peeters H; Bilan F; Letienne-Cejudo L; Gilbert-Dussardier B; Ruiz-Arana IL; Merlini JM; Boizot A; Bartoloni L; Santoni F; Karlowicz D; McDonald M; Wu H; Hu Z; Chen G; Ou J; Brasch-Andersen C; Fagerberg CR; Dreyer I; Chun-Hui Tsai A; Slegesky V; McGee RB; Daniels B; Sellars EA; Carpenter LA; Schaefer B; Sacoto MJG; Begtrup A; Schnur RE; Punj S; Wentzensen IM; Rhodes L; Pan Q; Bernier RA; Chen C; Eichler EE; Xia K
Am J Hum Genet; 2020 Nov; 107(5):963-976. PubMed ID: 33157009
[TBL] [Abstract][Full Text] [Related]
15. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A; Zink AM; Wieland T; Lüdecke HJ; Cremer K; Salviati L; Magini P; Najafi K; Zweier C; Czeschik JC; Aretz S; Endele S; Tamburrino F; Pinato C; Clementi M; Gundlach J; Maylahn C; Mazzanti L; Wohlleber E; Schwarzmayr T; Kariminejad R; Schlessinger A; Wieczorek D; Strom TM; Novarino G; Engels H
Eur J Hum Genet; 2015 Jun; 23(6):753-60. PubMed ID: 25138099
[TBL] [Abstract][Full Text] [Related]
16. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
[TBL] [Abstract][Full Text] [Related]
17. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
18. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D; Carss K; Spasic-Boskovic O; Parker MJ; Archer H; Firth HV; Park SM; Canham N; Holder SE; Wilson M; Hackett A; Field M; Floyd JA; ; Hurles M; Raymond FL
Am J Hum Genet; 2014 Apr; 94(4):618-24. PubMed ID: 24680889
[TBL] [Abstract][Full Text] [Related]
19. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF; Janowski R; Alvi M; Self JE; van Essen TJ; Vreeburg M; Rouhl RPW; Stevens SJC; Stegmann APA; Schieving J; Pfundt R; van Dijk K; Smeets E; Stumpel CTRM; Bok LA; Cobben JM; Engelen M; Mansour S; Whiteford M; Chandler KE; Douzgou S; Cooper NS; Tan EC; Foo R; Lai AHM; Rankin J; Green A; Lönnqvist T; Isohanni P; Williams S; Ruhoy I; Carvalho KS; Dowling JJ; Lev DL; Sterbova K; Lassuthova P; Neupauerová J; Waugh JL; Keros S; Clayton-Smith J; Smithson SF; Brunner HG; van Hoeckel C; Anderson M; Clowes VE; Siu VM; Ddd Study T; Selber P; Leventer RJ; Nellaker C; Niessing D; Hunt D; Baralle D
J Med Genet; 2018 Feb; 55(2):104-113. PubMed ID: 29097605
[TBL] [Abstract][Full Text] [Related]
20. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ; van der Donk R; Baltrunaite K; Waanders E; Reijnders MRF; Dingemans AJM; Pfundt R; Vulto-van Silfhout AT; Wiel L; Gilissen C; Thevenon J; Perrin L; Afenjar A; Nava C; Keren B; Bartz S; Peri B; Beunders G; Verbeek N; van Gassen K; Thiffault I; Cadieux-Dion M; Huerta-Saenz L; Wagner M; Konstantopoulou V; Vodopiutz J; Griese M; Boel A; Callewaert B; Brunner HG; Kleefstra T; Hoogerbrugge N; de Vries BBA; Hwa V; Dauber A; Hehir-Kwa JY; Kuiper RP; Jongmans MCJ
Am J Hum Genet; 2019 Apr; 104(4):758-766. PubMed ID: 30929739
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
